acmgscaler (version 1.0.0)
Variant Effect Calibration to ACMG/AMP Evidence Strength
Description
Provides a function to calibrate variant effect scores against
evidence strength categories defined by the American College of Medical
Genetics and Genomics (ACMG) and the Association for Molecular Pathology
(AMP) guidelines. The method computes likelihood ratios of pathogenicity
via kernel density estimation of pathogenic and benign score distributions,
and derives score intervals corresponding to ACMG/AMP evidence levels. This
enables researchers and clinical geneticists to interpret functional and
computational variant scores in a reproducible and standardised manner. For
details, see Badonyi and Marsh (2025) .